Canonical Allele Identifier: CA3003114191

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393192C>A , CM000673.2:g.6393192C>A	GRCh38
NC_000011.9:g.6414422C>A , CM000673.1:g.6414422C>A	GRCh37
NC_000011.8:g.6370998C>A	NCBI36
NG_011780.1:g.7768C>A
NG_029615.1:g.31223G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1092-24C>A MANE Select	ENSP00000340409.4:n.1092-24C>A
ENST00000342245.8:c.1092-24C>A	ENSP00000340409.4:n.1092-24C>A
ENST00000526280.1:c.321-425C>A
ENST00000527275.5:c.1089-24C>A	ENSP00000435350.1:n.1089-24C>A
ENST00000531303.5:c.439-24C>A	ENSP00000432625.1:n.439-24C>A
ENST00000533123.5:c.1092-425C>A	ENSP00000435950.1:n.1092-425C>A
ENST00000534405.5:c.1132-24C>A	ENSP00000434353.1:n.1132-24C>A
NM_000543.4:c.1092-24C>A	NP_000534.3:n.1092-24C>A
NM_001007593.2:c.1089-24C>A	NP_001007594.2:n.1089-24C>A
XM_005253075.3:c.1092-24C>A	XP_005253132.1:n.1092-24C>A
XM_011520303.1:c.1132-425C>A	XP_011518605.1:n.1132-425C>A
XM_011520304.1:c.1132-425C>A	XP_011518606.1:n.1132-425C>A
XR_930886.1:n.1430-24C>A
NM_001318087.1:c.1092-24C>A	NP_001305016.1:n.1092-24C>A
NM_001318088.1:c.171-24C>A	NP_001305017.1:n.171-24C>A
NM_001365135.1:c.1132-425C>A	NP_001352064.1:n.1132-425C>A
NR_027400.2:n.1277-425C>A
NR_134502.1:n.624-24C>A
XM_011520304.2:c.1132-425C>A	XP_011518606.1:n.1132-425C>A
XR_001747940.2:n.1257-24C>A
XR_002957158.1:n.1257-24C>A
NM_000543.5:c.1092-24C>A MANE Select	NP_000534.3:n.1092-24C>A
NM_001007593.3:c.1089-24C>A	NP_001007594.2:n.1089-24C>A
NM_001318087.2:c.1092-24C>A	NP_001305016.1:n.1092-24C>A
NM_001318088.2:c.171-24C>A	NP_001305017.1:n.171-24C>A
NM_001365135.2:c.1132-425C>A	NP_001352064.1:n.1132-425C>A
NR_027400.3:n.1217-425C>A
NR_134502.2:n.564-24C>A